MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: central nervous system disease (MONDO:0002602)
..Starting node ..hemiplegia ()
Child Nodes:
........alternating hemiplegia of childhood ()
Sister Nodes:
..autoimmune disease of central nervous system ()
..brain disease ()
..central nervous system infectious disorder ()
..central nervous system neoplasm ()
..central nervous system vasculitis ()
..central retinal vein occlusion ()
..cerebrospinal fluid leak ()
..encephalomyelitis ()
..headache disorder ()
..hemiplegia ()
..high pressure neurological syndrome ()
..neurodegenerative disease ()
..optic nerve disease ()
..quadriplegia ()
..spinal cord disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1170
Name:	hemiplegia
Definition:	Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	infantile hemiplegia; postnatal infantile hemiplegia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal